CCDC62 Chromosome 12

Coiled-coil domain containing 62
1 variant 1 Health Risk

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What This Gene Does
Enables nuclear estrogen receptor binding activity and transcription coactivator activity. Involved in several processes, including cellular response to estradiol stimulus; estrogen receptor signaling pathway; and positive regulation of transcription by RNA polymerase II. Located in acrosomal vesicle and nucleus. Implicated in spermatogenic failure 67. [provided by Alliance of Genome Resources, Jul 2025]
Associated Conditions (1)
Spermatogenic failure 67
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS1021793710 Health Risk Pathogenic Spermatogenic failure 67, Spermatogenic failure 67
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